(Q54591995)

1 June 2018

title

A feasibility study for the newborn screening of spinal muscular atrophy. (English)

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1 June 2018

main subject

spinal muscular atrophy

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Robert E Pyatt

1

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1 June 2018

Thomas W Prior

series ordinal

2

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1 June 2018

language of work or name

English

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publication date

1 July 2006

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1 June 2018

published in

Genetics in Medicine

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1 June 2018

volume

8

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1 June 2018

issue

7

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1 June 2018

page(s)

428-437

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1 June 2018

https://scigraph.springernature.com/pub.10.1097/01.gim.0000227970.60450.b2

exact match

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cites work

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59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.

21 January 2018

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Identification and characterization of a spinal muscular atrophy-determining gene

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Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs

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Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component

21 January 2018

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Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins

21 January 2018

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.

21 January 2018

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21 January 2018

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Policy issues for expanding newborn screening programs: the cystic fibrosis newborn screening experience in the United States

21 January 2018

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Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies

21 January 2018

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10.1097/01.GIM.0000227970.60450.B2

21 January 2018

Identifiers

DOI

1 reference

1 June 2018

Dimensions Publication ID

0 references

1 reference

1 June 2018